A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462379



Internal ID15522444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107454063..107470737hg38UCSC Ensembl
Innerchr5:106789764..106806438hg19UCSC Ensembl
Innerchr5:106817663..106834337hg18UCSC Ensembl
Innerchr5:106817663..106834337hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3816675
hg1916675
hg1816675
hg1716675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538555
SamplesHGDP01278
Known GenesEFNA5
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462379
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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